Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 94137
MIM: 608581
HGNC: 15946
Ensembl: ENSG00000183638
Variants:
dbSNP: 94137
ClinVar: 94137
TCGA: ENSG00000183638
COSMIC: RP1L1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000183638 | ENST00000382483 | Q8IWN7 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38265784 | 2024 | Distinct Clinical Effects of Two RP1L1 Hotspots in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report 4. | 1 |
| 38485037 | 2024 | Research progress of RP1L1 gene in disease. | 0 |
| 38265784 | 2024 | Distinct Clinical Effects of Two RP1L1 Hotspots in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report 4. | 1 |
| 38485037 | 2024 | Research progress of RP1L1 gene in disease. | 0 |
| 34865606 | 2022 | RP1L1 rs3924612 gene polymorphism and RP1L1 protein associations among patients with early age-related macular degeneration. | 0 |
| 34865606 | 2022 | RP1L1 rs3924612 gene polymorphism and RP1L1 protein associations among patients with early age-related macular degeneration. | 0 |
| 32176261 | 2020 | Clinical and Genetic Characteristics of Chinese Patients with Occult Macular Dystrophy. | 5 |
| 32940107 | 2020 | A variant in the RP1L1 gene in a family with occult macular dystrophy in a predicted intrinsically disordered region. | 3 |
| 32176261 | 2020 | Clinical and Genetic Characteristics of Chinese Patients with Occult Macular Dystrophy. | 5 |
| 32940107 | 2020 | A variant in the RP1L1 gene in a family with occult macular dystrophy in a predicted intrinsically disordered region. | 3 |
| 31833436 | 2019 | Novel homozygous loss-of-function mutations in RP1 and RP1L1 genes in retinitis pigmentosa patients. | 11 |
| 31833436 | 2019 | Novel homozygous loss-of-function mutations in RP1 and RP1L1 genes in retinitis pigmentosa patients. | 11 |
| 30025130 | 2018 | Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort. | 14 |
| 30025130 | 2018 | Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort. | 14 |
| 27029556 | 2017 | Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy. | 13 |
Citation
Dessen P
RP1L1 (RP1 like 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/72770/rp1l1-(rp1-like-1)
